Translation defects
Mutations in two different subunits of the translation initiation factor eIF2B are found in patients with a severe neurological disorder.
Nov 13, 2001
Analysis of patients with an inherited brain disease has provided the first link between translation initiation factors and human disease. Leukoencephalopathy with vanishing white matter (VWM) occurs during childhood and is a chronic-progressive disorder (involving rapid additional deterioration following febrile infection or minor head trauma).
In the Advanced Online Publication of
Genomic sequence analysis identified mutations in